Canonical Allele Identifier: CA10575790

Gene: DYNC2LI1

Linked Data

• ClinVar Variation Id: 212768
• ClinVar RCV Id: RCV000239617 ; RCV000754099
• dbSNP Id: rs879255656
• gnomAD v4: 2-43805249-A-G
• MyVariant Identifiers: chr2:g.44032388A>G (hg19) ; chr2:g.43805249A>G (hg38)
• PubMed: PMID:26077881

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43805249A>G , CM000664.2:g.43805249A>G	GRCh38
NC_000002.11:g.44032388A>G , CM000664.1:g.44032388A>G	GRCh37
NC_000002.10:g.43885892A>G	NCBI36
NG_053008.1:g.36211A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000260605.12:c.993+3A>G MANE Select	ENSP00000260605.8:n.993+3A>G
ENST00000378587.3:c.947A>G
ENST00000605786.5:c.996+3A>G	ENSP00000474032.1:n.996+3A>G
NM_001193464.1:c.996+3A>G	NP_001180393.1:n.996+3A>G
NM_016008.3:c.993+3A>G	NP_057092.2:n.993+3A>G
XM_005264364.3:c.996+3A>G	XP_005264421.1:n.996+3A>G
XM_005264365.3:c.993+3A>G	XP_005264422.1:n.993+3A>G
NM_001348912.1:c.993+3A>G	NP_001335841.1:n.993+3A>G
NM_001348913.1:c.996+3A>G	NP_001335842.1:n.996+3A>G
NM_016008.4:c.993+3A>G MANE Select	NP_057092.2:n.993+3A>G
NM_001193464.2:c.996+3A>G	NP_001180393.1:n.996+3A>G
NM_001348912.2:c.993+3A>G	NP_001335841.1:n.993+3A>G
NM_001348913.2:c.996+3A>G	NP_001335842.1:n.996+3A>G